A significant body of research over the last 10-20 years supports the hypothesis that screening for hereditary hemochromatosis (HH) may be cost-effective, given the low-cost, low-risk therapeutic options available for most homozygous individuals. The factors that confound a straightforward test of ...
Cost-effectiveness of genetic diagnosis for Hereditary Hemochromatosis screeningdoi:10.1016/S0016-5085(00)81504-8PardoAlbertoElsevier Inc.Gastroenterology
32 El-Serag HB, Inadomi JM, Kowdley KV: Screening for hereditary hemochromatosis in siblings and children of affected patients. A cost-effectiveness analysis. Ann Intern Med 2000; 132: 261–269. European Journal of Human Genetics Hereditary hemochromatosis guidelines G Porto et al 493 33 Bulaj...
ARTICLE Impact of gene patents and licensing practices on access to genetic testing for hereditary hemochromatosis Subhashini Chandrasekharan, PhD1, Emily Pitlick, JD2, Christopher Heaney, BA1, and Robert Cook-Deegan, MD1 Abstract: Hereditary hemochromatosis is an iron metabolism disorder that leads ...
ClassicalhereditaryhemochromatosisinvolvestheHFE-geneanddiagnosticanalysisoftheDNAvariantsHFE p.C282Y(c.845G>A;rs1800562)andHFEp.H63D(c.187C>G;rs1799945).Theaffectedproteinaltersthe ironhomeostasisresultinginironoverloadinvarioustissues.Theaimofthisstudywastovalidatethe TaqMan-basedSample-to-SNPprotocolfor...
Human leukocyte antigen typing of siblings in hereditary hemochromatosis: a cost approach. Hepatology. 1992;15:263-8.Adams PC, Kertesz AE. Human leukocyte antigen typing of siblings in hereditary hemochromatosis: a cost approach. HEPATOLOGY 1992; 15: 263-268....
CUKJATI, M.; VAUPOTIČ, T.; RUTH RUPREHT, R.; URINSERBEC, V. Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay. BMC Medical Genetics, London, v. 8, n. 10, p. 691-699, 2007....